nsv4853985
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,799
- Publication(s):Abel et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 122 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4853985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 56,523,319 (-2, +46) | 56,531,117 (-59, +2) |
nsv4853985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 55,098,375 (-2, +46) | 55,106,173 (-59, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16377551 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16377551 | Remapped | Perfect | NC_000020.11:g.(56 523317_56523365)_( 56531058_56531119) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 56,523,319 (-2, +46) | 56,531,117 (-59, +2) |
nssv16377551 | Submitted genomic | NC_000020.10:g.(55 098373_55098421)_( 55106114_55106175) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 55,098,375 (-2, +46) | 55,106,173 (-59, +2) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16377551 | <0.001 | 1 | 16834 |